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A gene is the basic unit of heredity. Genes are composed\u00a0of DNA, and each person has two copies of every gene, one handed down from each parent. The replication\u00a0and then transmission of genes from parents to children is what is responsible for heredity from one generation to the next. Genes serve\u00a0as an instructional guide to make proteins. In humans, genes vary in size from a few hundred DNA bases to more than 2 million bases. In the center of each cell, the DNA is coiled into chromosomes, and a normal humans should have 23 pairs of chromosomes. The Human Genome Project was completed in 2003 and took 13 years to decipher out the human code of genes. At this time, the best scientific estimation is that humans have around 20-25,000 genes.<\/p>\n
Genetic testing is the process of\u00a0assessing\u00a0your specific genes, chromosomes, or proteins for changes from the norm. Testing can be done for prenatal screening, newborn screening, and assessing increased risk for breast, ovarian, and colon cancer, or for diseases like Alzheimer\u2019s or Huntington\u2019s Chorea. Currently, there are over 1,000 genetic tests in use for patient care.<\/p>\n
A gene mutation is a permanent change in the gene from the norm, and this mutation can be a single change in a single DNA base, or within huge segment of a chromosome. Mutations can occur in one of two ways, either inherited from a parent, or acquired during a lifetime. Some genetic mutations are common and thought to be not harmful to a person, while other mutations are rare and can cause harm to a person.<\/p>\n
Genetic testing involves looking for the mutations in genes that have been transmitted down from your parents. There are two parts to a genetics evaluation, counseling and testing. Genetics counseling is\u00a0typically performed\u00a0by a certified genetics counselor, and involves working through a patient\u2019s family pedigree to determine who is most suitable for testing. \u00a0Genetics testing is the second part, and involves testing for changes in genes. Genetic testing can be done by either a blood test or a buccal swab (spit test). \u00a0Genetic testing is absolutely voluntary, and a personal decision. Because genetic testing has potential benefits, but also limitations and risks, the decision about testing\u00a0is a personal and complex one. \u00a0The genetic counselor and Dr. Slam can discuss the pros and cons of the genetic\u00a0counseling and testing.<\/p>\n
BRCA1 and BRCA2 are human genes that belong to a class of genes known as tumor suppressor genes. Mutations of these genes has been linked to hereditary breast and ovarian cancer. All patients have the BRCA gene, but only a few people have MUTATIONS in the gene. A woman’s risk of developing breast or ovarian cancer is greatly increased if she inherits a harmful BRCA1 or BRCA2 mutation. Some BRCA mutations are not harmful. BRCA gene mutations also place a patient at a higher risk of developing pancreas, prostate, stomach, renal, and melanoma skin cancers.<\/p>\n
No, but it is the most common mutation that can cause breast cancer. Mutations in other genes, including TP53, PTEN, STK11\/LKB1, CDH1, CHEK2, ATM, MLH1, and MSH2, have been associated with hereditary breast and\/or ovarian tumors, but these are gene mutations are very rare.<\/p>\n
No! \u00a0Most cases of breast cancer are\u00a0sporadic, meaning, not due to a gene mutation.<\/p>\n
No, but each patient should have a through risk assessment. Based on this, if a patient might qualify for\u00a0testing,\u00a0this will be offered to the patient.<\/p>\n
GINA will prohibit discrimination in health coverage and employment on the basis of genetic information. GINA, together with HIPPA, generally prohibits health insurers from requesting genetic information of an individual or family members, or using it for decisions regarding coverage, rates, or preexisting conditions. The law also prohibits most employers from using genetic information for hiring, firing, or promotion decisions, and for any decisions regarding terms of employment.<\/p>\n